Incidental Mutation 'IGL02423:Inppl1'
| ID |
292765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inppl1
|
| Ensembl Gene |
ENSMUSG00000032737 |
| Gene Name |
inositol polyphosphate phosphatase-like 1 |
| Synonyms |
SHIP2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101471839-101487419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101481450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 244
(V244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000165052]
[ENSMUST00000185929]
|
| AlphaFold |
Q6P549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035836
AA Change: V244A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165052
AA Change: V244A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185929
AA Change: V244A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: V244A
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
7.6e-29 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
4e-14 |
BLAST |
|
IPPc
|
423 |
736 |
1.9e-139 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210116
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mice display decreased postnatal growth, decreased circulating levels of leptin, free fatty acids, triglycerides, and total cholesterol, and resistance to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,109,832 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,756 (GRCm39) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,983,467 (GRCm39) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,733,830 (GRCm39) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,210,220 (GRCm39) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,911 (GRCm39) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,350,927 (GRCm39) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,905 (GRCm39) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,483,800 (GRCm39) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,923 (GRCm39) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,032 (GRCm39) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,081,097 (GRCm39) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,762,144 (GRCm39) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,378 (GRCm39) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,894,827 (GRCm39) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,507,732 (GRCm39) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,819,732 (GRCm39) |
M540R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,824 (GRCm39) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,498,248 (GRCm39) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,740,718 (GRCm39) |
M2163K |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,391,050 (GRCm39) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,590,987 (GRCm39) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,481,680 (GRCm39) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,726,045 (GRCm39) |
D317G |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,054,539 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,164,858 (GRCm39) |
S218T |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,397 (GRCm39) |
V216I |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,392 (GRCm39) |
V590A |
possibly damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,734 (GRCm39) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,510,524 (GRCm39) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,118 (GRCm39) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm39) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,302,943 (GRCm39) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,704,891 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,760,084 (GRCm39) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,685 (GRCm39) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,141,844 (GRCm39) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,776 (GRCm39) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,244,191 (GRCm39) |
D478G |
probably damaging |
Het |
| Slc12a7 |
A |
T |
13: 73,911,882 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,211,322 (GRCm39) |
T1074A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,059,298 (GRCm39) |
T239A |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,928,419 (GRCm39) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,318,295 (GRCm39) |
Q444K |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,140,305 (GRCm39) |
I817F |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,082,077 (GRCm39) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,572,442 (GRCm39) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,907 (GRCm39) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,535,617 (GRCm39) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,304,900 (GRCm39) |
I378V |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,889,968 (GRCm39) |
E42G |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,665 (GRCm39) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,228 (GRCm39) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,120 (GRCm39) |
H380R |
probably benign |
Het |
|
| Other mutations in Inppl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Inppl1
|
APN |
7 |
101,478,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Inppl1
|
APN |
7 |
101,483,041 (GRCm39) |
nonsense |
probably null |
|
|
IGL01678:Inppl1
|
APN |
7 |
101,481,803 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02420:Inppl1
|
APN |
7 |
101,481,526 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02965:Inppl1
|
APN |
7 |
101,477,478 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03329:Inppl1
|
APN |
7 |
101,473,587 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
ditzel
|
UTSW |
7 |
101,476,663 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Inppl1
|
UTSW |
7 |
101,475,220 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0310:Inppl1
|
UTSW |
7 |
101,477,706 (GRCm39) |
splice site |
probably benign |
|
|
R0355:Inppl1
|
UTSW |
7 |
101,476,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Inppl1
|
UTSW |
7 |
101,477,402 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Inppl1
|
UTSW |
7 |
101,480,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0578:Inppl1
|
UTSW |
7 |
101,480,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Inppl1
|
UTSW |
7 |
101,473,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1526:Inppl1
|
UTSW |
7 |
101,482,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1901:Inppl1
|
UTSW |
7 |
101,472,584 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2381:Inppl1
|
UTSW |
7 |
101,478,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Inppl1
|
UTSW |
7 |
101,481,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Inppl1
|
UTSW |
7 |
101,481,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5637:Inppl1
|
UTSW |
7 |
101,478,055 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6227:Inppl1
|
UTSW |
7 |
101,473,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6409:Inppl1
|
UTSW |
7 |
101,478,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Inppl1
|
UTSW |
7 |
101,481,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6752:Inppl1
|
UTSW |
7 |
101,481,749 (GRCm39) |
nonsense |
probably null |
|
|
R7095:Inppl1
|
UTSW |
7 |
101,476,663 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Inppl1
|
UTSW |
7 |
101,477,993 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7421:Inppl1
|
UTSW |
7 |
101,482,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7575:Inppl1
|
UTSW |
7 |
101,477,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Inppl1
|
UTSW |
7 |
101,479,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7767:Inppl1
|
UTSW |
7 |
101,473,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8131:Inppl1
|
UTSW |
7 |
101,479,268 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8206:Inppl1
|
UTSW |
7 |
101,472,783 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8492:Inppl1
|
UTSW |
7 |
101,475,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8559:Inppl1
|
UTSW |
7 |
101,478,834 (GRCm39) |
nonsense |
probably null |
|
|
R8707:Inppl1
|
UTSW |
7 |
101,478,903 (GRCm39) |
missense |
|
|
|
R8876:Inppl1
|
UTSW |
7 |
101,472,750 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8921:Inppl1
|
UTSW |
7 |
101,472,593 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9021:Inppl1
|
UTSW |
7 |
101,480,915 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9113:Inppl1
|
UTSW |
7 |
101,475,231 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation